Varaico: Literature-Extracted Genetic Variants

NUP188

117 papers

RefSeq Summary

The nuclear pore complex (NPC) is found on the nuclear envelope and forms a gateway that regulates the flow of proteins and RNAs between the cytoplasm and nucleoplasm. The NPC is comprised of approxim...

Pfam Domains

Nup188_Naa 31–486UCSCNucleoporin Nup188, N-terminal

Nup188_SH3-likeaa 487–528UCSCNup188 SH3-like domain

Nup188_N-subdom_IIIaa 529–940UCSCNucleoporin Nup188, N-terminal subdomain III

Gene Aliases

HGNC Name

nucleoporin 188

HGNC Previous Symbol

KIAA0169

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015354.3

p.V234L

c.700G>T

Surrounding Variants

1 paper

NM_015354.3

p.V234L

c.700G>C

1 paper

NM_015354.3

p.K240R

c.719A>G

1 paper

NM_015354.3

p.Q248*

c.742C>T

1 paper

NM_015354.3

p.R209W

c.625C>T

1 paper

NM_015354.3

p.W203C

c.609G>C

1 paper

NM_015354.3

p.W203C

c.609G>T

2 papers

NM_015354.3

p.R202H

c.605G>A

1 paper

NM_015354.3

p.D289_E292del0

c.867_875del9

1 paper

NM_015354.3

p.D299G

c.896A>G

3 papers

NM_015354.3

p.I302_C303delFs

c.904_907del4

2 papers

NM_015354.3

p.I302fs

c.904_905fs

2 papers

NM_015354.3

p.I302fs

c.904_905fs